A toddler appears normal during mealtime and is given her food to eat. While eating, she develops respiratory distress with choking and spits out much of the food through her nose and mouth. The caregiver stops the meal and seeks medical evaluation.
What is the most probable diagnosis?
A 36 hour old neonate is presented to the GP by the parents due to the absence of bowel movement since birth at home and vomiting of yellow/green liquid after feeding. During the examination, the child’s stomach appears significantly distended, but no palpable masses are detected. What is the gold standard diagnostic test for the probable diagnosis?
A mother brings her child to the pediatrician’s office concerned about her child’s development. Her child is 20 months old and has been slow to meet all developmental milestones. Her health visitor advised that she come to see you. You learn that the child has experienced feeding difficulties throughout her life.
During the examination of the child, you observe that she is drooling and is making lots of slow, writhing movements of her hands and feet. The mother tells you that this is common and that her daughter struggles to hold onto objects such as toys.
What is the probable diagnosis?
A 4-year-old boy is brought to his pediatrician by his father. He has been experiencing a dry cough and runny nose for the past 7 days, along with a 6-day history of fevers up to 38.7ºC that have not responded to paracetamol and ibuprofen.
During the examination, the boy appears generally unwell and unhappy. His tongue is bright red, and there is a maculopapular rash on his trunk. Bilateral conjunctival injection is present, but there is no apparent discharge. Additionally, palpable submandibular lymphadenopathy is observed.
What investigation should be utilized to screen for long-term complications, given the probable diagnosis?
A 5-year-old boy comes to the clinic with a history of diarrhoea lasting for 2 weeks. Upon examination, he is found to be dehydrated. Further investigations reveal hypernatraemia. What signs are most likely to be observed during the physical examination?
An infant is found to be cyanotic shortly after birth. A chest X-ray reveals a ‘boot-shaped’ heart, and a holosystolic murmur is heard at the left lower sternal border.
What other finding is probable in this infant?
A 35-year-old mother had a natural birth at home. Ten days later, she brought her newborn to the Emergency Department, complaining of a musty odour of the skin and urine. Examination reveals hypopigmentation and eczema. Genetic testing revealed an autosomal recessive genetic disorder.
Which of the following is most likely linked to the condition of the newborn?
A 5-year-old child presents with the classic murmur of a patent ductus arteriosus. The child is underweight for their age but is otherwise in good health.
What course of action would you suggest for this patient?
A 10-year-old boy is the shortest in his class, measuring only 125 cm. His parents are worried about his growth. His last three recorded heights have been between the 0.4th and 2nd centile. His mother is 160 cm tall and his father is 175 cm tall. He has no other health issues.
What could be the probable reason for his short stature?
What is the initial indication of puberty in males?